Varaico: Literature-Extracted Genetic Variants

CBS

891 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterical...

Pfam Domains

PALPaa 80–376UCSCPyridoxal-phosphate dependent enzyme

CBSaa 414–470UCSCCBS domain

Gene Aliases

HGNC Name

cystathionine beta-synthase

HGNC Alias Symbol

HIP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000071.3

p.D133N

c.397G>A

Surrounding Variants

2 papers

NM_000071.3

p.R132H

c.395G>A

1 paper

NM_000071.3

p.G134R

c.400G>C

1 paper

NM_000071.3

p.G134R

c.400G>A

3 papers

NM_000071.3

p.R132C

c.394C>T

1 paper

NM_000071.3

p.R132S

c.394C>A

11 papers

NM_000071.3

p.E131D

c.393G>T

1 paper

NM_000071.3

p.G134V

c.401G>T

12 papers

NM_000071.3

p.E131D

c.393G>C

1 paper

NM_000071.3

p.G134E

c.401G>A

1 paper

NM_000071.3

p.G134G

c.402G>A

1 paper

NM_000071.3

p.E131G

c.392A>G

1 paper

NM_000071.3

p.T135fs

c.403_404fs